Familial granulovacuolar lobular myopathy with electrical myotonia

Augusto Juguilon, David Chad, Walter G. Bradley, Lester Adelman, John Kelemen, Peter Bosch, Theodore L. Munsat

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into "lobules" due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.

Original languageEnglish (US)
Pages (from-to)133-140
Number of pages8
JournalJournal of the Neurological Sciences
Volume56
Issue number2-3
DOIs
StatePublished - Nov 1982
Externally publishedYes

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ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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